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    Evaluation of sexual function and micro-testicular sperm extraction in men with mosaic Turner syndrome
    (All India Inst Medical Sciences, 2018) Salvarci, Ahmet; Zamani, Aysegul
    Background. Men with mosaic Turner syndrome (TS) having karyotype 45, X/46, XY are infrequently seen. Their sexual function and fertility potential are not well documented. We describe the sexual function and outcomes of sperm extraction in 5 such men who were evaluated between 2008 and 2017. Methods. Five phenotypic men diagnosed to have mosaic TS underwent detailed physical examination, semen analysis and evaluation of follicle-stimulating hormone, luteinizing hormone, prolactin and total testosterone. Blood, testis, oral mucosa and skin fluorescence in situ hybridization (FISH) analyses were done for evaluating the karyotype. Genomic DNA was extracted from peripheral blood for molecular analysis of azoospermic factor (AzF) deletions. Sexual function was assessed using the International Index of Erectile Function-5 (IIEF-5). One patient also underwent micro-testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI). Results. All 5 men had a mosaic 45, X/46, XY genotype and the sex-determining region (SRY) was positive in DYZ1negative cells. None had a deletion in the AzF a, b or c regions. Sperm was detected in 3 patients through micro-TESE but ICSI could be done in only 1 patient. No embryo development was identified in time lapse (Embryoscope (c)) follow-up. It was observed that the rate of 46, XY was particularly high in gonadal tissues in the mosaic structure in patients detected to have sperms. Conclusion. Patients with TS having 45, X/46, XY, SRY(+), with no AzF deletions, and a high percentage of 46, XY in the peripheral blood, especially in gonadal tissues, could have a healthy sexual life and possibly father a child through in vitro fertilization or ICSI upon detection of sperms with micro-TESE.
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    Inspection of Endothelial Nitric Oxide Synthase Gene Polymorphism in Patients With Henoch Schonlein Purpura
    (Turkish League Against Rheumatism, 2014) Somuncu, Makbule Nihan; Yildirim, Mahmut Selman; Zamani, Aysegul; Peru, Harun
    Objectives: This study aims to investigate the effect of Glu298Asp polymorphism, which is observed at endothelial nitric oxide synthase isoform particularly, having a significant impact on endothelial functions of nitric oxide synthase gene and on vascular system in patients with Henoch Schonlein purpura (HSP). Patients and methods: Ninety-five patients who were diagnosed with HSP and 93 healthy controls without any previous vascular disease, hypertension and other cardiovascular diseases were included in this study. The patient group was compared with the controls for Glu298Asp genotype and allele frequencies. The patients were classified according to the clinical complications and were compared with controls and also each other for allele and genotype frequencies. Real-time polymerase chain reaction and LightCycler (R) 2.0 system were used. Results: There was no statistically significant difference in the genotype frequencies between the HSP patients and healthy controls. No significant differences in Glu298Asp gene polymorphism among the patient groups were observed. However, polymorphism had an significant effect on patients with all involvements statistically (P-TT=0.001, P-GG=0.000). Conclusion: We conclude that Glu298Asp polymorphism has no effect on the development of HSP vasculitis; however, it may have an impact on the clinical progress of the existing disease.